Human Gene TUBB (uc011gui.2) Description and Page Index
  Description: Homo sapiens tubulin, beta class I (TUBB), mRNA.
RefSeq Summary (NM_178014): This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:2,036,251-2,041,289 Size: 5,039 Total Exon Count: 4 Strand: +
Coding Region
   Position: chr6_mann_hap4:2,036,378-2,040,268 Size: 3,891 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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+  Comments and Description Text from UniProtKB
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: TUBB
CDC HuGE Published Literature: TUBB
Positive Disease Associations: brain hemorrhage , Multiple Sclerosis
Related Studies:
  1. brain hemorrhage
    Navarro-Nunez, L. et al. 2007, The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men, Haematologica 2007 92(4) 513-8. [PubMed 17488662]
    This is the first evidence linking the TUBB1 Q43P platelet polymorphism with hemorrhagic stroke in humans.
  2. Multiple Sclerosis
    Sergio E Baranzini et al. Human molecular genetics 2009, Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis., Human molecular genetics. [PubMed 19010793]

+  Comparative Toxicogenomics Database (CTD)
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+  Microarray Expression Data
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+  mRNA Secondary Structure of 3' and 5' UTRs
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-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013838 - Beta-tubulin_BS
IPR002453 - Beta_tubulin
IPR008280 - Tub_FtsZ_C
IPR000217 - Tubulin
IPR018316 - Tubulin/FtsZ_2-layer-sand-dom
IPR023123 - Tubulin_C
IPR017975 - Tubulin_CS
IPR003008 - Tubulin_FtsZ_GTPase

Pfam Domains:
PF00091 - Tubulin/FtsZ family, GTPase domain
PF03953 - Tubulin/FtsZ family, C-terminal domain

SCOP Domains:
52490 - Tubulin nucleotide-binding domain-like
55307 - Tubulin C-terminal domain-like

Protein Data Bank (PDB) 3-D Structure

3QNZ
- X-ray Chimera

3QO0
- X-ray Chimera
Chimera help

ModBase Predicted Comparative 3D Structure on P07437
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+  Orthologous Genes in Other Species
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+  Descriptions from all associated GenBank mRNAs
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-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04540 - Gap junction
hsa05130 - Pathogenic Escherichia coli infection

-  Other Names for This Gene
  Alternate Gene Symbols: NM_178014, NP_821133, OK/SW-cl.56, P05218, P07437, Q8WUC1, Q9CY33, TBB5_HUMAN, TUBB5
UCSC ID: uc011gui.2
RefSeq Accession: NM_178014
Protein: P07437 (aka TBB5_HUMAN